Article
Severe type III hyperlipoproteinemia associated with unusual apolipoprotein E1 phenotype and epsilon 1/'null' genotype.
European journal of clinical investigation - 1 Sept 1992
Feussner G, Funke H, Weng W, Assmann G, Lackner K J, Ziegler R
Abstract excerpt
A 60-year-old white male (KH) was diagnosed to suffer from severe type III hyperlipoproteinemia (HLP) and premature cardiovascular disease. Biochemical analysis revealed an unusual apolipoprotein (apo) E phenotype and genotype. All clinical characteristics of type III HLP were present in the pati...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Amino Acid Sequence
- Apolipoproteins E
- Base Sequence
- Centrifugation, Density Gradient
- Child
- Child, Preschool
- Cholesterol, VLDL
- Electrophoresis, Polyacrylamide Gel
- Female
- Frameshift Mutation
- Gene Expression
- Genetic Techniques
- Genotype
- Heterozygote